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24. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]. Sakuraba H Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243 [TBL] [Abstract][Full Text] [Related]
28. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients. Morgan SH; Rudge P; Smith SJ; Bronstein AM; Kendall BE; Holly E; Young EP; Crawfurd MD; Bannister R Q J Med; 1990 May; 75(277):491-507. PubMed ID: 2167495 [TBL] [Abstract][Full Text] [Related]
29. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Germain DP; Poenaru L Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848 [TBL] [Abstract][Full Text] [Related]
30. [Fabry disease: data from four families]. Slee PH; van Boven LJ; Slee DS Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2412-5. PubMed ID: 11145098 [TBL] [Abstract][Full Text] [Related]
31. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Rodríguez-Marí A; Coll MJ; Chabás A Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095 [TBL] [Abstract][Full Text] [Related]
32. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Shabbeer J; Robinson M; Desnick RJ Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228 [TBL] [Abstract][Full Text] [Related]
38. [Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]. Hůlková H; Ledvinová J; Poupĕtová H; Bultas J; Zeman J; Elleder M Cas Lek Cesk; 1999 Nov; 138(21):660-4. PubMed ID: 10746023 [TBL] [Abstract][Full Text] [Related]
39. Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease. Huerva V; Martín M; Canto LM; Yagüe J Cornea; 2008 Sep; 27(8):970-2. PubMed ID: 18724168 [TBL] [Abstract][Full Text] [Related]